Varaico: Literature-Extracted Genetic Variants

Gene:ITSN2
Variant:p.E736insFs
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ITSN2

NM_006277.3:p.E736insFs

Associated Papers

Mutation analysis in 36 unrelated Spanish subjects with familial hypercholesterolemia: identification of 3 novel mutations in the LDL receptor gene.

Mozas P et al.

Human Mutation, 2000

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."